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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hnrnph1tm1.1Nju
targeted mutation 1.1, Model Animal Research Center of Nanjing University
MGI:7768008
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Hnrnph1tm1.1Nju/Hnrnph1tm1.1Nju
Plekha5Tg(AMH-cre)1Flor/Plekha5+
involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL MGI:7768010


Genotype
MGI:7768010
cn1
Allelic
Composition
Hnrnph1tm1.1Nju/Hnrnph1tm1.1Nju
Plekha5Tg(AMH-cre)1Flor/Plekha5+
Genetic
Background
involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnrnph1tm1.1Nju mutation (0 available); any Hnrnph1 mutation (28 available)
Plekha5Tg(AMH-cre)1Flor mutation (1 available); any Plekha5 mutation (109 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• adults show reduced numbers of spermatocytes and spermatids and no detectable mature spermatozoa in seminiferous tubules and cauda epididymis
• decrease in spermatids in adults
• decrease in spermatocytes in adults
• a higher proportion of spermatocytes show an abnormal gamma-H2A.X distribution, indicating the DNA damage response remains active in synapsed homologs of pachytene spermatocytes
• pachytene spermatocytes show abnormal double-strand DNA break (DSB) repair
• pachytene and diplotene spermatocytes are reduced indicating developmental retardation of pachytene spermatocytes
• the number of apoptotic cells in testis is increased even at the early P14 stage, suggesting dystrophy of the developing spermatocytes during the first wave of spermatogenesis
• F-actin is disorganized in seminiferous tubules
• abnormal Sertoli cell morphology and blood-testis barrier structure with large irregular cavities is seen in the seminiferous epithelium
• basal tight junction proteins (N-cadherin and beta-catenin) and ectoplasmic specialization protein (ZO-1) are found beyond the basement membrane of seminiferous tubules and diffusely present at the blood-testis barrier, extending towards the lumen
• cytoskeleton of Sertoli cells shows disruption of microtubular arrangement and actin organization
• length of vimentin filaments in Sertoli cells in seminiferous tubules is shorter
• the structure of apical ectoplasmic specialization is disrupted
• developing testes show decreased diameter of seminiferous tubules from P21 onwards
• ratio of testis weight to body weight is reduced from P21 onwards
• biotin tracer permeates into seminiferous tubules indicating disrupted blood-testis barrier
• spermatogenesis is arrested in step 15 spermatids
• however, development and differentiation of spermatogonia both in juvenile and adult mice are not affected
• a large number of round spermatids and a few spermatocytes are prematurely sloughed into cauda epididymis at P28 and P60
• males never produce any pups

endocrine/exocrine glands
• F-actin is disorganized in seminiferous tubules
• abnormal Sertoli cell morphology and blood-testis barrier structure with large irregular cavities is seen in the seminiferous epithelium
• basal tight junction proteins (N-cadherin and beta-catenin) and ectoplasmic specialization protein (ZO-1) are found beyond the basement membrane of seminiferous tubules and diffusely present at the blood-testis barrier, extending towards the lumen
• cytoskeleton of Sertoli cells shows disruption of microtubular arrangement and actin organization
• length of vimentin filaments in Sertoli cells in seminiferous tubules is shorter
• the structure of apical ectoplasmic specialization is disrupted
• developing testes show decreased diameter of seminiferous tubules from P21 onwards
• ratio of testis weight to body weight is reduced from P21 onwards
• biotin tracer permeates into seminiferous tubules indicating disrupted blood-testis barrier

cellular
• adults show reduced numbers of spermatocytes and spermatids and no detectable mature spermatozoa in seminiferous tubules and cauda epididymis
• decrease in spermatids in adults
• decrease in spermatocytes in adults
• a higher proportion of spermatocytes show an abnormal gamma-H2A.X distribution, indicating the DNA damage response remains active in synapsed homologs of pachytene spermatocytes
• pachytene spermatocytes show abnormal double-strand DNA break (DSB) repair
• pachytene and diplotene spermatocytes are reduced indicating developmental retardation of pachytene spermatocytes
• the number of apoptotic cells in testis is increased even at the early P14 stage, suggesting dystrophy of the developing spermatocytes during the first wave of spermatogenesis





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory